• chromosomal
  • Large chromosomal abnormalities such as trisomies 21, 13, and 18 cause about 5-8% of cases of CHD, with trisomy 21 being the most common genetic cause. (wikipedia.org)
  • Small chromosomal abnormalities also frequently lead to congenital heart disease, and examples include microdeletion of the long arm of chromosome 22 (22q11, DiGeorge syndrome), the long arm of chromosome 1 (1q21), the short arm of chromosome 8 (8p23) and many other, less recurrent regions of the genome, as shown by high resolution genome-wide screening (Array comparative genomic hybridization). (wikipedia.org)
  • facial
  • The patient presented with the typical clinical findings of Costello syndrome such as increased birth weight, severe failure to thrive, characteristic facial appearance, and skin abnormalities. (manipal.edu)
  • syndrome
  • Some people who have the syndrome can function in a normal way, while others have symptoms of mental retardation and various physical anomalies. (wikipedia.org)
  • Asplenia with cardiovascular anomalies, also known as Ivemark syndrome and right atrial isomerism, is an example of a heterotaxy syndrome. (wikipedia.org)
  • Majewski's polydactyly syndrome, also known as polydactyly with neonatal chondrodystrophy type I, short rib-polydactyly syndrome type II, and short rib-polydactyly syndrome, is a lethal form of neonatal dwarfism characterized by osteochondrodysplasia (skeletal abnormalities in the development of bone and cartilage) with a narrow thorax, polysyndactyly, disproportionately short tibiae, thorax dysplasia, hypoplastic lungs and respiratory insufficiency. (wikipedia.org)
  • Fryns syndrome is an autosomal recessive multiple congenital anomaly syndrome that is usually lethal in the neonatal period. (wikipedia.org)
  • The abnormalities associated with this syndrome are thought to be due to errors that occur very early during development. (wikipedia.org)
  • Research is ongoing to find the cause of all vascular anomalies including PHACE Syndrome. (wikipedia.org)
  • The association of anomalies and the PHACES acronym was first coined by Dr. Vail Reese and Dr. Ilona Frieden in 1996, making it a newly described syndrome. (wikipedia.org)
  • Prader-Willi Syndrome first appeared in the medical literature when endocrinologists Prader, Labhart, and Willi published a report describing an unusual pattern of abnormalities. (lymphedemapeople.com)
  • Schimmelpenning syndrome is a neurocutaneous condition characterized by one or more sebaceous nevi, usually appearing on the face or scalp, associated with anomalies of the central nervous system, ocular system, skeletal system, cardiovascular system, and genitourinary system. (wikipedia.org)
  • Since the original identification of Schimmelpenning syndrome, the number of findings has expanded to the point that the syndrome is associated with a considerable constellation of abnormalities. (wikipedia.org)
  • growth retardation
  • However, diagnosis may be more difficult to establish in adults patients, such as: blepharophimosis, contractures, growth retardation, and developmental delay, whereas minor face anomalies are less noticeable as the patient grows older. (wikipedia.org)
  • Obstruction
  • Renal abnormalities in VACTERL association can be severe, with incomplete formation of one or both kidneys or urologic abnormalities such as obstruction of outflow of urine from the kidneys or severe reflux (backflow) of urine into the kidneys from the bladder. (wikipedia.org)
  • larynx
  • Abnormalities in the larynx, trachea and esophagus can cause significant difficulty breathing and/or swallowing and can result in reoccurring pneumonia and life-threatening situations. (wikipedia.org)
  • aplasia
  • Problems with the development of the vagina (Müllerian aplasia) Eyes: Cataracts Heart abnormalities and cardiovascular anomalies (30% of the cases): Anomalous origin of the coronary artery (Class II-deletion) Kidneys: Missing kidney or floating kidneys Cancer: Neuroblastoma Sleep disturbances It is not clear whether the list of symptoms is complete. (wikipedia.org)
  • symptoms
  • citation needed] Since abnormalities of cilia are known to be related to a wide range of disease symptoms including those commonly seen in BBS patients, it is now widely accepted that mutated BBS genes affect normal cilia function, which, in turns, causes BBS. (wikipedia.org)
  • severe
  • The dermatological anomalies were remarkable as he showed severe skin laxity with wrinkling of skin on all parts of the body due to loss of subcutaneous fat that decreased significantly by age 13 months. (manipal.edu)
  • vitamin
  • Do Vitamin D Supplements Improve Cardiovascular Risk Factors? (markdrugs.com)
  • In observational studies, lower vitamin D levels have been associated with higher cardiovascular risk, so some clinicians (including cardiologists in my community) are advising patients to take vitamin D supplements explicitly to lower cardiovascular risk. (markdrugs.com)
  • To determine whether vitamin D supplements favorably alter conventional cardiovascular risk factors, U.K. researchers randomized 305 postmenopausal women (mean age, 64) without known cardiovascular disease to receive vitamin D3 supplements (either 400 or 1000 IU daily) or placebo. (markdrugs.com)